Smell testing is abnormal in ‘lubag’ or X-linked dystonia-parkinsonism: a pilot study

Evidente, Virgilio Gerald H.; Esteban, Raymund P.; Hernández, José L.; Natividad, Filipinas F.; Advincula, Joel; Gwinn‐Hardy, Katrina; Singleton, Amanda; Singleton, Andrew B.

doi:10.1016/j.parkreldis.2004.04.011

Cited by 21 publications

(13 citation statements)

References 14 publications

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“…2B). Dystonia was marked as completely absent (ie, never occurred) in three patients overall (1%), 12,13 in whom no obvious common features were reported. In patients with more detailed information on dystonia (PUB: 308/414 cases, ADD: 145/163 cases), craniocervical dystonia was the most common dystonic sign (PUB: 55%; 180 patients, ADD: 72%; 105 patients) (Fig.…”

Section: Resultsmentioning

confidence: 97%

Expanding Data Collection for the MDSGene Database: X‐linked Dystonia‐Parkinsonism as Use Case Example

et al. 2020

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MDSGene is an online database on movement disorders that collates genetic and clinical knowledge using a standardized published literature abstraction strategy. This review is dedicated to X-linked dystonia-parkinsonism (XDP). We screened 233 citations and curated phenotypic and genotypic data for 414 cases. To reduce data missingness, we (1) contacted authors and engaged the research community to provide additional clinical and genetic information, and (2) revisited previously unpublished data from a cohort of XDP patients seen at our institution. Using these approaches, we expanded the cohort to 577 cases and increased information available for important clinical and genetic features such as age at onset, initial manifestation, predominant motor symptoms, functional impairments, and repeat size information. We established the use of mining unpublished data to expand the MDSGene workflow and present an up-to-date description of the phenomenology of XDP using an extensive collection of previously reported and unreported data.

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Section: Resultsmentioning

confidence: 97%

Expanding Data Collection for the MDSGene Database: X‐linked Dystonia‐Parkinsonism as Use Case Example

et al. 2020

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“…Several diseases with parkinsonian syndrome that can be mistaken for PD have either no or slight olfactory deficits ( Doty, 2012b ). This is the case for essential tremor ( Applegate and Louis, 2005 ; Busenbark et al, 1992 ; Hawkes et al, 2003 ; Louis et al, 2008 ; Quagliato et al, 2009 ; Štenc Bradvica et al, 2015 ) and for the early stages of the X-linked recessive dystonia-parkinsonism ( Evidente et al, 2004 ). Only mild deficits in odor identification are described in corticobasal degeneration (CBD) ( Luzzi et al, 2007 ; Wenning et al, 1995b ) and multiple system atrophy (MSA; for both the subtypes MSA-P and MSA-C) ( Abele et al, 2003 ; Garland et al, 2011 ; Goldstein et al, 2008 ; Kikuchi et al, 2011 ; Müller et al, 2002 ; Nee et al, 1993 ; Suzuki et al, 2011 ; Wenning et al, 1995a ).…”

Section: Olfactory Dysfunction Is Common In Many Neurodegenerativementioning

confidence: 99%

The olfactory bulb as the entry site for prion-like propagation in neurodegenerative diseases

Rey

Wesson

Brundin

2018

Neurobiology of Disease

212

181

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Olfactory deficits are present in numerous neurodegenerative disorders and are accompanied by pathology in related brain regions. In several of these disorders, olfactory disturbances appear early and are considered as prodromal symptoms of the disease. In addition, pathological protein aggregates affect olfactory regions prior to other regions, suggesting that the olfactory system might be particularly vulnerable to neurodegenerative diseases. Exposed to the external environment, the olfactory epithelium and olfactory bulb allow pathogen and toxin penetration into the brain, a process that has been proposed to play a role in neurodegenerative diseases. Determining whether the olfactory bulb could be a starting point of pathology and of pathology spread is crucial to understanding how neurodegenerative diseases evolve. We argue that pathological changes following environmental insults contribute to the initiation of protein aggregation in the olfactory bulb, which then triggers the spread of the pathology within the brain by a templating mechanism in a prion-like manner.We review the evidence for the early involvement of olfactory structures in neurodegenerative diseases and the relationship between neuropathology and olfactory function. We discuss the vulnerability and putative underlying mechanisms by which pathology could be initiated in the olfactory bulb, from the entry of pathogens (promoted by increased permeability of the olfactory epithelium with aging or inflammation) to the sensitivity of the olfactory system to oxidative stress and inflammation. Finally, we review changes in protein expression and neural excitability triggered by pathogenic proteins that can promote pathogenesis in the olfactory bulb and beyond.

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“…In the sole study to assess olfactory function in this disease, Evidente et al (2004) administered a culturally modified 25-item version of the UPSIT to 20 affected males and 20 controls. Slight dysfunction was observed relative to controls (respective means adjusted to 40-item UPSIT scale = 29 and 33, p< 0.001).…”

Section: Olfactory Phenotypes Of Other Neurodegenerative Disorders Asmentioning

confidence: 99%

Olfaction in Parkinson's disease and related disorders

Doty

2012

Neurobiology of Disease

371

286

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Olfactory dysfunction is an early ‘pre-clinical’ sign of Parkinson's disease (PD). The present review is a comprehensive and up-to-date assessment of such dysfunction in PD and related disorders. The olfactory bulb is implicated in the dysfunction, since only those syndromes with olfactory bulb pathology exhibit significant smell loss. The role of dopamine in the production of olfactory system pathology is enigmatic, as overexpression of dopaminergic cells within the bulb's glomerular layer is a common feature of PD and most animal models of PD. Damage to cholinergic, serotonergic, and noradrenergic systems is likely involved, since such damage is most marked in those diseases with the most smell loss. When compromised, these systems, which regulate microglial activity, can influence the induction of localized brain inflammation, oxidative damage, and cytosolic disruption of cellular processes. In monogenetic forms of PD, olfactory dysfunction is rarely observed in asymptomatic gene carriers, but is present in many of those that exhibit the motor phenotype. This suggests that such gene-related influences on olfaction, when present, take time to develop and depend upon additional factors, such as those from aging, other genes, formation of α-synuclein- and tau-related pathology,or lowered thresholds to oxidative stress from toxic insults. The limited data available suggest that the physiological determinants of the early changes in PD-related olfactory function are likely multifactorial and may include the same determinants as those responsible for a number of other non-motor symptoms of PD, such as dysautonomia and sleep disturbances.

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Smell testing is abnormal in ‘lubag’ or X-linked dystonia-parkinsonism: a pilot study

Cited by 21 publications

References 14 publications

Expanding Data Collection for the MDSGene Database: X‐linked Dystonia‐Parkinsonism as Use Case Example

Expanding Data Collection for the MDSGene Database: X‐linked Dystonia‐Parkinsonism as Use Case Example

The olfactory bulb as the entry site for prion-like propagation in neurodegenerative diseases

Olfaction in Parkinson's disease and related disorders

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